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UniProtKB - Q8WVS4 (DC2I1_HUMAN)

Entry version 154 (07 Oct 2020)
Sequence version 3 (18 May 2010)
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Protein

Cytoplasmic dynein 2 intermediate chain 1

Gene

DYNC2I1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 2 complex (dynein-2 complex), a motor protein complex that drives the movement of cargos along microtubules within cilia and flagella in concert with the intraflagellar transport (IFT) system (PubMed:23910462, PubMed:25205765, PubMed:31451806, PubMed:29742051). DYNC2I1 plays a major role in retrograde ciliary protein trafficking in cilia and flagella (PubMed:29742051, PubMed:30320547, PubMed:30649997). Requires also to maintain a functional transition zone (PubMed:30320547).6 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCilium biogenesis/degradation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q8WVS4

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5620924, Intraflagellar transport

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q8WVS4

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Cytoplasmic dynein 2 intermediate chain 1
Alternative name(s):
Dynein 2 intermediate chain 1
WD repeat-containing protein 60
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DYNC2I1Imported
Synonyms:WDR60
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000126870.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:21862, DYNC2I1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615462, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q8WVS4

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8)3 Publications
The disease is caused by mutations affecting the gene represented in this entry. Fibroblasts from affected individuals exhibit a defect in ciliogenesis and aberrant accumulation of the GLI2 transcription factor at the centrosome or basal body in the absence of an obvious axoneme.
Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_083839631 – 1066Missing in SRTD8; Reduces interaction with IFT proteins. 2 PublicationsAdd BLAST436
Natural variantiVAR_079178642 – 1066Missing in SRTD8. 1 PublicationAdd BLAST425
Natural variantiVAR_070197749T → M in SRTD8; does not affect interaction with DYNC2I2. 2 PublicationsCorresponds to variant dbSNP:rs587777065EnsemblClinVar.1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		55112

MalaCards human disease database

More...MalaCardsi		WDR60
MIMi615503, phenotype

Open Targets

More...OpenTargetsi		ENSG00000126870

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		474, Jeune syndrome
93271, Short rib-polydactyly syndrome, Verma-Naumoff type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142670594

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q8WVS4, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		WDR60

Domain mapping of disease mutations (DMDM)

More...DMDMi		296453073

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002421421 – 1066Cytoplasmic dynein 2 intermediate chain 1Add BLAST1066

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei30PhosphoserineCombined sources1
Modified residuei247PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q8WVS4

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q8WVS4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q8WVS4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q8WVS4

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q8WVS4

PeptideAtlas

More...PeptideAtlasi		Q8WVS4

PRoteomics IDEntifications database

More...PRIDEi		Q8WVS4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		74818

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q8WVS4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q8WVS4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in chondrocytes (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000126870, Expressed in sural nerve and 219 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q8WVS4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q8WVS4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000126870, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Intermediate chain of the cytoplasmic dynein complex 2, a multisubunit complex, composed at least of eleven different proteins (PubMed:31451806, PubMed:25205765). The cytoplasmic dynein 2 complex consists of two catalytic heavy chains (HCs) and a number of non-catalytic subunits presented by intermediate chains (ICs), light intermediate chains (LICs) and light chains (LCs). Among them, a heavy chain (DYNC2H1), two intermediate chains (DYNC2I2 and DYNC2I1), a light intermediate chain (DYNC2LI1), and a light chain (TCTEX1D2) are unique to the cytoplasmic dynein complex 2, but a subset of the light chains are also shared by dynein-1 and dynein-2 complexes (PubMed:25205765, PubMed:31451806).

Interacts with DYNC2I2; their C-terminal domains each bind a copy of the heavy chain, and their extended N-terminal regions are held together by an array of light chain dimers (PubMed:29742051, PubMed:31451806, PubMed:30320547).

Interacts with TCTEX1D2 (PubMed:26044572).

Interacts (via the N-terminal half) with TCTEX1D2-DYNLT1 dimer or with TCTEX1D2-DYNLT3 dimer; this interaction is crucial for retrograde trafficking of ciliary proteins (PubMed:29742051).

5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120422, 28 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q8WVS4

Protein interaction database and analysis system

More...IntActi		Q8WVS4, 21 interactors

Molecular INTeraction database

More...MINTi		Q8WVS4

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000384290

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q8WVS4, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q8WVS4

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati694 – 734WD 1Sequence analysisAdd BLAST41
Repeati775 – 821WD 2Sequence analysisAdd BLAST47
Repeati907 – 947WD 3Sequence analysisAdd BLAST41
Repeati952 – 992WD 4Sequence analysisAdd BLAST41

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni473 – 552Binding to the TCTEX1D2-DYNLT1/DYNLT3 dimer1 PublicationAdd BLAST80

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the dynein light intermediate chain family.Curated

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1587, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000013743

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_010610_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q8WVS4

KEGG Orthology (KO)

More...KOi		K22869

Identification of Orthologs from Complete Genome Data

More...OMAi		VLCCTRS

Database of Orthologous Groups

More...OrthoDBi		1158787at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q8WVS4

TreeFam database of animal gene trees

More...TreeFami		TF329081

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR036322, WD40_repeat_dom_sf
IPR042505, WDR60

The PANTHER Classification System

More...PANTHERi		PTHR16022, PTHR16022, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00320, WD40, 3 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50978, SSF50978, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q8WVS4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEPGKRRTKD DTWKADDLRK HLWAIQSGGS KEERKHREKK LRKESEMDLP 
        60         70         80         90        100
EHKEPRCRDP DQDARSRDRV AEVHTAKESP RGERDRDRQR ERRRDAKDRE 
       110        120        130        140        150
KEKLKEKHRE AEKSHSRGKD REKEKDRRAR KEELRQTVAH HNLLGQETRD 
       160        170        180        190        200
RQLLERAERK GRSVSKVRSE EKDEDSERGD EDRERRYRER KLQYGDSKDN 
       210        220        230        240        250
PLKYWLYKEE GERRHRKPRE PDRDNKHREK SSTREKREKY SKEKSNSFSD 
       260        270        280        290        300
KGEERHKEKR HKEGFHFDDE RHQSNVDRKE KSAKDEPRKR ESQNGEHRNR 
       310        320        330        340        350
GASSKRDGTS SQHAENLVRN HGKDKDSRRK HGHEEGSSVW WKLDQRPGGE 
       360        370        380        390        400
ETVEIEKEET DLENARADAY TASCEDDFED YEDDFEVCDG DDDESSNEPE 
       410        420        430        440        450
SREKLEELPL AQKKEIQEIQ RAINAENERI GELSLKLFQK RGRTEFEKEP 
       460        470        480        490        500
RTDTNSSPSR ASVCGIFVDF ASASHRQKSR TQALKQKMRS TKLLRLIDLD 
       510        520        530        540        550
FSFTFSLLDL PPVNEYDMYI RNFGKKNTKQ AYVQCNEDNV ERDIQTEEIE 
       560        570        580        590        600
TREVWTQHPG ESTVVSGGSE QRDTSDAVVM PKIDTPRLCS FLRAACQVMA 
       610        620        630        640        650
VLLEEDRLAA EPSWNLRAQD RALYFSDSSS QLNTSLPFLQ NRKVSSLHTS 
       660        670        680        690        700
RVQRQMVVSV HDLPEKSFVP LLDSKYVLCV WDIWQPSGPQ KVLICESQVT 
       710        720        730        740        750
CCCLSPLKAF LLFAGTAHGS VVVWDLREDS RLHYSVTLSD GFWTFRTATF 
       760        770        780        790        800
STDGILTSVN HRSPLQAVEP ISTSVHKKQS FVLSPFSTQE EMSGLSFHIA 
       810        820        830        840        850
SLDESGVLNV WVVVELPKAD IAGSISDLGL MPGGRVKLVH SALIQLGDSL 
       860        870        880        890        900
SHKGNEFWGT TQTLNVKFLP SDPNHFIIGT DMGLISHGTR QDLRVAPKLF 
       910        920        930        940        950
KPQQHGIRPV KVNVIDFSPF GEPIFLAGCS DGSIRLHQLS SAFPLLQWDS 
       960        970        980        990       1000
STDSHAVTGL QWSPTRPAVF LVQDDTSNIY IWDLLQSDLG PVAKQQVSPN 
      1010       1020       1030       1040       1050
RLVAMAAVGE PEKAGGSFLA LVLARASGSI DIQHLKRRWA APEVDECNRL 
      1060 
RLLLQEALWP EGKLHK
Length:1,066
Mass (Da):122,571
Last modified:May 18, 2010 - v3
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iA6B4A0C3DC4CD2C2
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H7C022H7C022_HUMAN
Dynein 2 intermediate chain 1
DYNC2I1
522Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7BYQ2H7BYQ2_HUMAN
Dynein 2 intermediate chain 1
DYNC2I1
96Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1E8H7C1E8_HUMAN
Dynein 2 intermediate chain 1
DYNC2I1
196Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA91528 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti225N → K in AAH14491 (PubMed:15489334).Curated1
Sequence conflicti292S → F in AAH14491 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02684191E → G. Corresponds to variant dbSNP:rs17837851Ensembl.1
Natural variantiVAR_026842273Q → R. Corresponds to variant dbSNP:rs2788478EnsemblClinVar.1
Natural variantiVAR_083839631 – 1066Missing in SRTD8; Reduces interaction with IFT proteins. 2 PublicationsAdd BLAST436
Natural variantiVAR_079178642 – 1066Missing in SRTD8. 1 PublicationAdd BLAST425
Natural variantiVAR_070197749T → M in SRTD8; does not affect interaction with DYNC2I2. 2 PublicationsCorresponds to variant dbSNP:rs587777065EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AC004863 Genomic DNA No translation available.
AC124833 Genomic DNA No translation available.
BC014491 mRNA Translation: AAH14491.2
AK001162 mRNA Translation: BAA91528.1 Different initiation.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS47757.1

NCBI Reference Sequences

More...RefSeqi		NP_060521.4, NM_018051.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000407559; ENSP00000384290; ENSG00000126870

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55112

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55112

UCSC genome browser

More...UCSCi		uc003woe.5, human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC004863 Genomic DNA No translation available.
AC124833 Genomic DNA No translation available.
BC014491 mRNA Translation: AAH14491.2
AK001162 mRNA Translation: BAA91528.1 Different initiation.
CCDSiCCDS47757.1
RefSeqiNP_060521.4, NM_018051.4

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6RLBelectron microscopy4.50C1-1066[»]
6SC2electron microscopy3.90C1-1066[»]
SMRiQ8WVS4
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120422, 28 interactors
CORUMiQ8WVS4
IntActiQ8WVS4, 21 interactors
MINTiQ8WVS4
STRINGi9606.ENSP00000384290

PTM databases

iPTMnetiQ8WVS4
PhosphoSitePlusiQ8WVS4

Polymorphism and mutation databases

BioMutaiWDR60
DMDMi296453073

Proteomic databases

EPDiQ8WVS4
jPOSTiQ8WVS4
MassIVEiQ8WVS4
MaxQBiQ8WVS4
PaxDbiQ8WVS4
PeptideAtlasiQ8WVS4
PRIDEiQ8WVS4
ProteomicsDBi74818

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		10739, 39 antibodies

The DNASU plasmid repository

More...DNASUi		55112

Genome annotation databases

EnsembliENST00000407559; ENSP00000384290; ENSG00000126870
GeneIDi55112
KEGGihsa:55112
UCSCiuc003woe.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55112
DisGeNETi55112
EuPathDBiHostDB:ENSG00000126870.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		WDR60
HGNCiHGNC:21862, DYNC2I1
HPAiENSG00000126870, Low tissue specificity
MalaCardsiWDR60
MIMi615462, gene
615503, phenotype
neXtProtiNX_Q8WVS4
OpenTargetsiENSG00000126870
Orphaneti474, Jeune syndrome
93271, Short rib-polydactyly syndrome, Verma-Naumoff type
PharmGKBiPA142670594

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1587, Eukaryota
GeneTreeiENSGT00390000013743
HOGENOMiCLU_010610_0_0_1
InParanoidiQ8WVS4
KOiK22869
OMAiVLCCTRS
OrthoDBi1158787at2759
PhylomeDBiQ8WVS4
TreeFamiTF329081

Enzyme and pathway databases

PathwayCommonsiQ8WVS4
ReactomeiR-HSA-5620924, Intraflagellar transport
SignaLinkiQ8WVS4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55112, 1 hit in 872 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		WDR60, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		55112
PharosiQ8WVS4, Tbio

Protein Ontology

More...PROi		PR:Q8WVS4
RNActiQ8WVS4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000126870, Expressed in sural nerve and 219 other tissues
ExpressionAtlasiQ8WVS4, baseline and differential
GenevisibleiQ8WVS4, HS

Family and domain databases

Gene3Di2.130.10.10, 2 hits
InterProiView protein in InterPro
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR036322, WD40_repeat_dom_sf
IPR042505, WDR60
PANTHERiPTHR16022, PTHR16022, 1 hit
SMARTiView protein in SMART
SM00320, WD40, 3 hits
SUPFAMiSSF50978, SSF50978, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDC2I1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8WVS4
Secondary accession number(s): Q9NW58
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 27, 2006
Last sequence update: May 18, 2010
Last modified: October 7, 2020
This is version 154 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
  5. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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